Bace1 Gene Summary [Mouse]

This gene encodes a member of the peptidase A1 family of aspartic proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protease. This transmembrane protease catalyzes the first step in the formation of amyloid beta peptide from amyloid precursor protein. Amyloid beta peptides are the main constituent of amyloid beta plaques, which accumulate in the brains of human Alzheimer's disease patients. Homozygous knockout mice for this gene exhibit a wide range of nervous system defects, growth retardation, metabolic abnormalities, and increased neonatal lethality. [provided by RefSeq, Nov 2015]

Details

Type
Protein Coding
Official Symbol
Bace1
Official Name
beta-site APP cleaving enzyme 1 [Source:MGI Symbol;Acc:MGI:1346542]
Ensembl ID
ENSMUSG00000032086
Bio databases IDs NCBI: 23821 Ensembl: ENSMUSG00000032086
Aliases beta-site APP cleaving enzyme 1
Synonyms ASP2, BACE, Beta-secretase, beta-secretase 1, beta-site APP cleaving enzyme 1, HSPC104, MEMAPSIN 2, β-secretase, β-secretase 1, β-site APP cleaving enzyme 1
Species
Mouse, Mus musculus
OrthologiesHumanRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Bace1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Xylanase inhibitor N-terminal
  • protein kinase binding
  • ectodomain
  • peptidase
  • signal peptide
  • enzyme binding
  • Cellular and retroviral pepsin-like aspartate proteases
  • protein binding
  • beta-amyloid binding
  • phosphorylation site
  • endopeptidase
  • cytoplasmic domain
  • transmembrane domain
  • beta-aspartyl-peptidase
  • aspartic endopeptidase
  • cytosolic tail domain
  • Xylanase inhibitor C-terminal
  • pro domain
  • Eukaryotic aspartyl protease

Pathways

Biological processes and signaling networks where the Bace1 gene in mouse plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
disease
  • hyperactive behavior
  • nonfamilial Alzheimer disease
  • gait disturbance
  • diabetes mellitus
  • Down syndrome
  • Alzheimer disease
  • sporadic inclusion body myositis
  • cachexia
  • gliosis
  • seizures
regulated by
regulates
role in cell
  • expression in
  • phosphorylation in
  • function
  • formation
  • apoptosis
  • production in
  • accumulation in
  • number
  • cell death
  • binding in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • detergent-insoluble membrane fraction
  • raft fractions
  • detergent-soluble membrane fractions
  • membrane fraction
  • presynaptic regions
  • perinuclear Golgi regions
  • cell surface
  • somatodendritic region
  • perinuclear region
  • organelle lumens
  • cellular membrane
  • Plasma Membrane
  • endosomes
  • vesicles
  • lysosome
  • Golgi Apparatus
  • Endoplasmic Reticulum
  • apical cell surfaces
  • basolateral cell surfaces
  • endoplasmic reticulum lumen
  • trans Golgi network
  • endosomal compartment
  • endosomal membrane
  • synaptic vesicles
  • growth cone
  • neurites
  • synapse
  • recycling endosomes
  • early endosomes
  • late endosomes
  • cytoplasmic vesicles
  • multivesicular bodies
  • membrane rafts
  • detergent insoluble microdomains
  • perikaryon
  • axons
  • dendrites
  • axon terminals
  • mossy fiber boutons
  • Golgi vesicles
  • mossy fibers

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Bace1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • amyloid precursor protein catabolic process
  • prepulse inhibition
  • cellular response to copper ion
  • positive regulation of neuron apoptotic process
  • membrane protein ectodomain proteolysis
  • cellular response to manganese ion
  • proteolysis
  • detection of mechanical stimulus involved in sensory perception of pain
  • protein processing
  • response to lead ion
  • beta-amyloid metabolic process
  • beta-amyloid formation

Cellular Component

Where in the cell the gene product is active
  • synaptic vesicle
  • late endosome
  • Golgi apparatus
  • neuronal cell body
  • multivesicular body
  • plasma membrane
  • lysosome
  • cell surface
  • dendrite
  • endoplasmic reticulum lumen
  • early endosome
  • trans-Golgi network
  • endosome
  • membrane raft
  • membrane
  • recycling endosome
  • endosome membrane
  • axon
  • Golgi-associated vesicle lumen

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • aspartic-type endopeptidase activity
  • endopeptidase activity
  • peptidase activity
  • beta-amyloid binding
  • enzyme binding
  • beta-aspartyl-peptidase activity

Gene-Specific Assays for Results You Can Trust

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